机译:用于诊断和估计15型脊髓小脑共济失调的多重连接依赖探针扩增试验的开发。
Devika Ganesamoorthy,1 Damien L. Bruno,1 Jacqueline Schoumans,2 Elsdon Storey,3 Martin B. Delatycki, 4 Danqing Zhu,5 Morgan K. Wei,5 Garth A. Nicholson,5 R.J. McKinlay Gardner,4 and Howard R. Slater1,4*1 Victorian Clinical Genetic Services and Murdoch Children's Research Institute, University of Melbourne, Department of Paediatrics, Royal Children's Hospital, Parkville, Victoria, Australia, 2 Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden, 3 Department of Medicine, Alfred Hospital, Monash University, Melbourne, Australia, 4 Genetic Health Services Victoria, Melbourne, Australia, 5 ANZAC Research Institute, University of Sydney, Department of Medicine, Concord Hospital, Sydney, Australia, * address correspondence to this author at: VCGS Cytogenetics Laboratory, Royal Children's Hospital, Parkville VIC 3052, Australia. Fax 61-3- 83416366, e-mail howard.slater@ghsv.org.au.,;
机译:开发用于诊断和评估15型脊髓小脑共济失调频率的多重连接依赖性探针扩增测定法。
机译:用于诊断和估计15型脊髓小脑共济失调的多重连接依赖探针扩增方法的开发
机译:多重结扎依赖性探针扩增法可诊断先天性肾上腺皮质增生。
机译:测序标记的依赖于多联结的探针扩增与热测序联用的无染料检测多基因表达,用于大肠癌的诊断
机译:婴儿起病的脊髓小脑共济失调13型突变导致发展和快速退化的表型与浦肯野细胞过度兴奋有关。
机译:通过多重连接依赖性探针扩增法检测意大利Diamond-Blackfan贫血患者的核糖体蛋白基因缺失的高频率
机译:开发用于诊断和评估15型脊髓小脑共济失调频率的多重连接依赖性探针扩增法